A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2456067



Internal ID8172939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:30495394..30496854hg38UCSC Ensembl
Outerchr7:30535010..30536470hg19UCSC Ensembl
Outerchr7:30501535..30502995hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381461
hg191461
hg181461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5209191
SamplesNA18507
Known GenesGGCT
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)esv2456067
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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