A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6726753



Internal ID9790874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143914316..144145978hg38UCSC Ensembl
Outerchr4:144835469..145067131hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38231663
hg19231663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480
Supporting Variants
SamplesSSM046
Known GenesGYPA, GYPB
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)essv6726753
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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