A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674150



Internal ID9940255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75097457..75125324hg38UCSC Ensembl
chr3:75146608..75174475hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3827868
hg1927868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6488350, essv5460495, essv6396540, essv6402680, essv5932720, essv5637699, essv6008335, essv6179210, essv6266163, essv6378510, essv6071118, essv6176498, essv5407860, essv5647383, essv6001530, essv5928537, essv6106562, essv5782575, essv6189468, essv6136207, essv5877168, essv5886229, essv6374299, essv6231062, essv6431304, essv6551322, essv5779070, essv6035551, essv6450940, essv6540238, essv5396670, essv5656714, essv6329816, essv6263018, essv6074908, essv5835149, essv6515565, essv6336916, essv6054100, essv6581534, essv6539781, essv6342763, essv6285793, essv6503747, essv6083362, essv5674256
SamplesHG00231, HG01374, HG00151, NA18596, NA18633, HG00693, HG00663, HG00589, HG00501, HG00122, HG00689, HG00448, NA18618, HG00683, NA18617, HG00422, HG01133, HG00701, NA19663, NA19081, HG00500, HG00708, HG00692, HG00684, NA19452, NA18963, HG00463, NA18536, NA19440, NA18950, HG00375, NA19010, HG01375, NA19467, NA18610, NA19078, HG00672, HG00614, HG00513, HG00578, NA18631, HG00329, NA19713, HG00698, HG00595, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674150
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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