A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673693



Internal ID9939798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87858698..87859940hg38UCSC Ensembl
Outerchr10:87858541..87860093hg38UCSC Ensembl
Innerchr10:89618455..89619697hg19UCSC Ensembl
Outerchr10:89618298..89619850hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg381553
hg191553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5399810, essv5623618, essv5650102, essv6286698, essv6207808, essv5640734, essv5815594, essv6058852
SamplesNA18486, NA18868, NA19238, NA19236, NA18948, NA19240, NA19711, NA18562
Known GenesKLLN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673693
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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