A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697617



Internal ID10112083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113064595..113065342hg38UCSC Ensembl
Outerchr4:113985751..113986498hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728155, esv2728156
Supporting Variants
SamplesSSM038
Known GenesANK2
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)essv6697617
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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