A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665584



Internal ID9585003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27244839..27245875hg38UCSC Ensembl
chr1:27571330..27572366hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5563340, essv6038244, essv6401614, essv5556556, essv6024848, essv5770268, essv6478667, essv6286247, essv5966725, essv5494353, essv5911852, essv5730220, essv6571527, essv5476047, essv6566921, essv6168864, essv6091461, essv5883640, essv5833299, essv5573274, essv5882481, essv5973720, essv5524500
SamplesNA19397, NA19359, NA19355, NA19396, NA19371, NA19235, NA18867, NA19451, NA19247, NA19437, NA19452, NA19395, NA19434, NA19435, NA19444, NA19380, HG01137, NA19468, NA19093, NA19430, NA19429, NA19346, NA18487
Known GenesWDTC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665584
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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