A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958606



Internal ID10067117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1010127..1010182hg38UCSC Ensembl
Outerchr10:1056067..1056122hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729273, esv2729239, esv2729262, esv2729251
Supporting Variants
SamplesSSM026
Known GenesGTPBP4
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6958606
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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