A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2457194



Internal ID8520753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131709018..131712571hg38UCSC Ensembl
Outerchr7:131393777..131397330hg19UCSC Ensembl
Outerchr7:131044317..131047870hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383554
hg193554
hg183554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5374160
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)esv2457194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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