A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925676



Internal ID10035193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7498707..7498913hg38UCSC Ensembl
Outerchr1:7558767..7558973hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741583, esv2741472, esv2741695
Supporting Variants
SamplesSSM019
Known GenesCAMTA1
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)essv6925676
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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