A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668199



Internal ID9934304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234351233..234352849hg38UCSC Ensembl
chr2:235259877..235261493hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381617
hg191617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5692438, essv6165856, essv5711340, essv6293897, essv5715268, essv6245579, essv6190897, essv5736023, essv5609719, essv5586722, essv5797361, essv6414032, essv6021934, essv6186587, essv5829545, essv5503281, essv6484976, essv6118054, essv5665203, essv6338983, essv5459327, essv6559379
SamplesNA19700, HG01462, NA19399, NA19332, NA19350, NA20346, NA19190, NA18870, NA19456, NA19451, NA19908, NA19707, NA19236, NA19338, NA19440, NA19108, NA19256, NA19434, NA19380, NA19144, NA19311, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668199
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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