A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725510



Internal ID9650957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143855203..143976160hg38UCSC Ensembl
Outerchr4:144776356..144897313hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38120958
hg19120958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728477, esv2728479
Supporting Variants
SamplesSSM007
Known GenesGYPE
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)essv6725510
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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