A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664401



Internal ID9930506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175053331..175057060hg38UCSC Ensembl
chr1:175022467..175026196hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383730
hg193730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6589972, essv5889604, essv6011656, essv6438732, essv5501564, essv5495302, essv5441896, essv6404654, essv5659096, essv5559558, essv6102665, essv5659356, essv5907874, essv5736720, essv6398470, essv5634510, essv5747873, essv5774905, essv5569920, essv6595456, essv5630707, essv5439494, essv5665138, essv6497888, essv5476580, essv6397905
SamplesNA19909, NA19399, NA19914, NA19332, NA19350, NA19446, NA18923, NA18868, NA19372, NA19385, NA19722, NA19445, NA19908, NA19462, NA19347, NA19391, NA19455, NA19461, NA18856, NA19318, NA19440, NA19108, NA19324, NA19328, NA19468, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664401
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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