A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2482496



Internal ID3389827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:100447004..100448380hg19UCSC Ensembl
Outerchr10:100436994..100438370hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg19188
hg18188
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5311800
SamplesNA18507
Known GenesHPSE2
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2482496
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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