A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5170558



Internal ID8262293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8476127..8477608hg38UCSC Ensembl
Outerchr2:8616257..8617738hg19UCSC Ensembl
Outerchr2:8533708..8535189hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381482
hg191482
hg181482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2554175
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5170558
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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