A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665905



Internal ID9585324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87925184..87956819hg38UCSC Ensembl
Outerchr14:87925147..87956869hg38UCSC Ensembl
Innerchr14:88391528..88423163hg19UCSC Ensembl
Outerchr14:88391491..88423213hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3831723
hg1931723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6396984, essv6428789, essv6193898
SamplesHG00155, HG00342, NA12716
Known GenesGALC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665905
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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