A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656907



Internal ID9576326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54781464..54828467hg38UCSC Ensembl
Outerchr19:54781093..54828837hg38UCSC Ensembl
Innerchr19:55292916..55339922hg19UCSC Ensembl
Outerchr19:55292545..55340292hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3847745
hg1947748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv668e199
Supporting Variantsessv6343845, essv6104356, essv6348094, essv6507404, essv6077475, essv6049541, essv5683349, essv6260933, essv6443427, essv5999573, essv5812394, essv5598163, essv6560460, essv6066010, essv6587700, essv6180965, essv6082541, essv5616818, essv5888241, essv6244644, essv6450971, essv5918350, essv5948157, essv6393338, essv5899848, essv6149292, essv6001748, essv5967320, essv6524414, essv6432896, essv5919881, essv5957666, essv5877730, essv6361894, essv6502586, essv6237857, essv6244289, essv5670173, essv5555856, essv5774498, essv6504392, essv6213430, essv5580749, essv6482112, essv5805499, essv6013301, essv5467107, essv5837261, essv6387191, essv5793177, essv6408172, essv6126345, essv5477049, essv6015427, essv5698689, essv5578900, essv6549382, essv5926782, essv6293105, essv6031687, essv5670981, essv5426968, essv5862747, essv6229460, essv6359092, essv5816534, essv5414177, essv6568754, essv6106668, essv5988965
SamplesNA18621, NA18592, NA18565, NA18561, NA18603, NA18545, NA18606, NA18616, NA18526, NA18633, NA18602, NA18627, NA18563, NA18550, NA18595, NA18567, NA18558, NA18547, NA18618, NA18582, NA18571, NA18611, NA18560, NA18539, NA18638, NA18614, NA18605, NA18613, NA18538, NA18637, NA18579, NA18572, NA18534, NA18630, NA18548, NA18537, NA18566, NA18573, NA18626, NA18532, NA18553, NA18555, NA18536, NA18570, NA18634, NA18593, NA18541, NA18546, NA18608, NA18632, NA18542, NA18535, NA18543, NA18559, NA18564, NA18628, NA18615, NA18610, NA18631, NA18636, NA18609, NA18552, NA18624, NA18623, NA18612, NA18549, NA18622, NA18562, NA18577, NA18620
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656907
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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