A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677267



Internal ID9943372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99037615..99038924hg38UCSC Ensembl
chr14:99503952..99505261hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381310
hg191310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv412e199
Supporting Variantsessv5840245, essv6182097, essv5632318, essv6004365, essv5587699, essv6141351, essv6230937
SamplesHG01072, NA19372, HG00313, NA20536, HG01375, HG00256, NA19472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677267
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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