A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727638



Internal ID9961949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56057735..56058029hg38UCSC Ensembl
Outerchr4:56923901..56924195hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825866, essv6886594, essv6929953, essv6774189, essv6704542, essv6934167, essv6829726, essv6794156, essv6947330, essv6745535
SamplesSSM071, SSM024, SSM021, SSM096, SSM066, SSM081, SSM040, SSM020, SSM080, SSM055
Known Genes
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)esv2727638
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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