A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939426



Internal ID10048521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152385232..152385658hg38UCSC Ensembl
Outerchr7:152082317..152082743hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735445
Supporting Variants
SamplesSSM022
Known GenesKMT2C
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)essv6939426
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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