A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730497



Internal ID9794243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143884098..144124672hg38UCSC Ensembl
Outerchr4:144805251..145045825hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240575
hg19240575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480
Supporting Variants
SamplesSSM047
Known GenesGYPA, GYPB, GYPE
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)essv6730497
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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