A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975401



Internal ID10082609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:126656906..126657478hg38UCSC Ensembl
Outerchr7:126296960..126297532hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735116
Supporting Variants
SamplesSSM029
Known GenesGRM8
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)essv6975401
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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