A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844566



Internal ID10243591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:97433238..97438073hg38UCSC Ensembl
Outerchr4:98354389..98359224hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384836
hg194836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728023
Supporting Variants
SamplesSSM085
Known GenesSTPG2-AS1
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)essv6844566
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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