A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728337



Internal ID10311973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:132443978..132444633hg38UCSC Ensembl
Outerchr4:133365133..133365788hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854592, essv6670451, essv6934248, essv6956298, essv6742803, essv6745600, essv6963004, essv6759704, essv6889819, essv6697633, essv6974008, essv6844592, essv6754185, essv6767205, essv6751270, essv6884475
SamplesSSM027, SSM064, SSM087, SSM038, SSM097, SSM057, SSM058, SSM021, SSM061, SSM029, SSM026, SSM031, SSM085, SSM053, SSM055, SSM012
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)esv2728337
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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