A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2618632



Internal ID8335504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:81728494..81729992hg38UCSC Ensembl
Outerchr7:81357810..81359308hg19UCSC Ensembl
Outerchr7:81195746..81197244hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5324013
SamplesNA18507
Known GenesHGF
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)esv2618632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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