A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2506598



Internal ID8570157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156556102..156559564hg38UCSC Ensembl
Outerchr1:156525894..156529356hg19UCSC Ensembl
Outerchr1:154792518..154795980hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383463
hg193463
hg183463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5289905
SamplesNA18507
Known GenesIQGAP3
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)esv2506598
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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