A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663896



Internal ID9583315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59640572..59641423hg38UCSC Ensembl
chr1:60106244..60107095hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6189701, essv5557341, essv5836441, essv5902075, essv6555255, essv5501084, essv6377393, essv5821546, essv6380954, essv5737657, essv6302577, essv5963831, essv6484374, essv5459565, essv5452223, essv5654956, essv6484419, essv5802360, essv6120283, essv6479700, essv6462131, essv5669827, essv5491162, essv5776140, essv6342845, essv5425576, essv6132073, essv5915378, essv6492991, essv5879088, essv6183925, essv6141093, essv5779574, essv6241928, essv6369197, essv5888718, essv6012536, essv5923447, essv5538632, essv5983120, essv6317067
SamplesNA19248, HG01359, NA18523, HG00112, NA18526, NA18516, NA19359, NA19449, HG01491, HG00148, NA19210, HG00111, HG00280, HG01101, NA19682, HG01133, HG01148, NA19428, NA18912, NA19239, NA20754, NA19398, NA19190, NA19377, NA19172, HG00268, NA18510, NA18502, NA19098, NA20797, HG01070, NA19707, NA19711, NA10851, NA18909, NA19403, NA19655, NA19371, NA19470, NA19350, NA19456
Known GenesFGGY
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663896
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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