A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2575268



Internal ID8638826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:96846196..96853596hg38UCSC Ensembl
Outerchr7:96475508..96482908hg19UCSC Ensembl
Outerchr7:96313444..96320844hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg387401
hg197401
hg187401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5263106
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)esv2575268
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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