A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700004



Internal ID9769469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108924957..108925319hg38UCSC Ensembl
Outerchr2:109541413..109541775hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720507
Supporting Variants
SamplesSSM039
Known GenesEDAR
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)essv6700004
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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