A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5264763



Internal ID8356498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43642408..43643944hg38UCSC Ensembl
Outerchr10:44137856..44139392hg19UCSC Ensembl
Outerchr10:43457862..43459398hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2437420
Supporting Variants
SamplesNA18507
Known GenesZNF32, ZNF32-AS1, ZNF32-AS3
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)essv5264763
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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