A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671408



Internal ID9590827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137977946..137979852hg38UCSC Ensembl
Outerchr2:137977575..137980222hg38UCSC Ensembl
Innerchr2:138735516..138737422hg19UCSC Ensembl
Outerchr2:138735145..138737792hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5756908, essv6446715, essv6080410, essv5581526, essv6313264, essv5571949, essv5709325, essv5900214, essv5970507, essv6367708, essv5792420, essv6466758, essv5644793, essv6208453, essv5780714, essv6304521, essv6536467, essv5608787, essv6304716, essv6026688, essv5477861, essv5744496, essv5938689, essv6313575, essv5871409, essv6150444, essv5923552, essv6361206, essv6168186, essv5544476, essv5724130, essv6274863, essv6571329, essv5918340, essv5490313, essv6225588, essv5599318, essv6579275, essv6361762, essv6307934, essv6062894, essv5600232, essv5542245, essv6102470, essv5469884, essv6297598, essv6457209, essv5668993, essv5565070, essv6010021, essv6575580, essv6333102, essv5741083, essv5525156, essv5456471, essv6365949, essv5919098, essv6160426, essv5427391, essv6411350, essv5831437, essv5896787, essv6162644, essv6575235, essv5404521, essv5880582, essv5464475, essv6501617, essv5449629, essv6509834, essv5466585, essv5907787, essv5711924, essv5690839, essv5507547, essv6237309, essv6159788, essv6513174, essv5912942, essv6497175, essv6418453, essv6585861, essv6449029, essv5508069, essv6185463, essv5945027
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00472, HG00628, HG00437, HG00581
Known GenesHNMT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671408
Frequency
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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