A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666271



Internal ID9585690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52761464..52762080hg38UCSC Ensembl
chr6:52626262..52626878hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6183027, essv6381670, essv5602152, essv5432356, essv6256674, essv5561162, essv6098515, essv6385481, essv5539286, essv6313728, essv6025317, essv5951551, essv5917713, essv6594698, essv6008465, essv6389558, essv6048951, essv5673914, essv5900484, essv5841800, essv5741562, essv5917615, essv5976258, essv6425218, essv6530829, essv5905969, essv5558814, essv5938951, essv6045254, essv5868272, essv6174339, essv5462866, essv5767557, essv6418436, essv6430248, essv5799182, essv6321131, essv6419537, essv5948706, essv5734136, essv6527991, essv6071666, essv5641755, essv5760281, essv6051546
SamplesNA19701, HG01356, HG01188, HG01456, NA18606, HG00737, HG01461, HG01140, HG01250, HG01366, NA19678, HG01354, NA19681, HG01134, NA19720, HG01080, HG00637, HG01133, HG01136, NA19670, HG00428, HG00701, NA19717, NA19663, NA19788, HG01149, NA19776, NA19654, HG01197, NA18570, HG00611, NA19749, NA19732, HG00734, HG01174, HG01494, HG01113, HG01108, HG01342, NA19716, NA19726, NA19780, NA19755, HG00553, NA19676
Known GenesGSTA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666271
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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