A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727097



Internal ID9961405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7981926..7982391hg38UCSC Ensembl
Outerchr4:7983653..7984118hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840701, essv6802157, essv6693590
SamplesSSM084, SSM073, SSM037
Known GenesABLIM2
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)esv2727097
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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