A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663801



Internal ID9929906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9936495..9937668hg38UCSC Ensembl
chr2:10076624..10077797hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6104148, essv6304499, essv6499219, essv5423718, essv5538811, essv5608682, essv6352056, essv5852684, essv5680104, essv6357032, essv6218653, essv5756259
SamplesNA19350, NA19373, NA19172, NA19445, NA18867, NA20515, NA19347, NA18871, NA19257, NA19440, HG01494, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663801
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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