A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756561



Internal ID9818368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25259755..25329768hg38UCSC Ensembl
Outerchr1:25586246..25656259hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3870014
hg1970014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745608
Supporting Variants
SamplesSSM059
Known GenesRHD
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)essv6756561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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