A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683647



Internal ID9753588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155837038..155837452hg38UCSC Ensembl
Outerchr4:156758190..156758604hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728574, esv2728570, esv2728571
Supporting Variants
SamplesSSM034
Known GenesASIC5
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)essv6683647
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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