A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675383



Internal ID9941488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228894572..228895191hg38UCSC Ensembl
chr2:229759288..229759907hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv765e199
Supporting Variantsessv6314257, essv6590245, essv6569880, essv5556720, essv6360220, essv5614423, essv6490809, essv6461502, essv6347007, essv6075508, essv5673574, essv5540022, essv5709725, essv6424465, essv6515412, essv6470337, essv5954370, essv5586729, essv6464513, essv5573208, essv5997822, essv6268283, essv6135020, essv6454942, essv6544947, essv5404678, essv5929344
SamplesHG01060, NA12842, NA12273, NA20514, NA20796, NA20768, NA12287, NA20513, NA19651, HG00236, NA18868, NA19371, HG01048, HG00133, HG00149, NA19247, NA12489, HG00183, HG00328, HG00732, HG00321, NA20282, HG01204, HG00267, HG00310, NA12154, HG01097
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675383
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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