A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728264



Internal ID10311900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:122789035..122789629hg38UCSC Ensembl
Outerchr4:123710190..123710784hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973991, essv6680020, essv6785971, essv6756587, essv6693736, essv6918316, essv6848444, essv6791765, essv6968905, essv6884420, essv6690061, essv6739588, essv6956281, essv6704638, essv6794245
SamplesSSM036, SSM008, SSM071, SSM009, SSM028, SSM069, SSM029, SSM026, SSM017, SSM086, SSM033, SSM040, SSM037, SSM052, 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)esv2728264
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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