A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848485



Internal ID10247119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:142053972..142054056hg38UCSC Ensembl
Outerchr4:142975125..142975209hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728455, esv2728453, esv2728454
Supporting Variants
SamplesSSM086
Known GenesINPP4B
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)essv6848485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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