A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956260



Internal ID10065006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113064796..113064894hg38UCSC Ensembl
Outerchr4:113985952..113986050hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728158, esv2728157, esv2728155, esv2728156
Supporting Variants
SamplesSSM026
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)essv6956260
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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