A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728874



Internal ID9963189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183642155..183642435hg38UCSC Ensembl
Outerchr4:184563308..184563588hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848557, essv6899400, essv6715169, essv6896519, essv6781861, essv6767251, essv6790159, essv6872459, essv6745662, essv6693805, essv6974132, essv6883945, essv6837094, essv6814013, essv6893159, essv6951533, essv6826032, essv6802312, essv6942950, essv6829850, essv6930096, essv6854681, essv6840900, essv6885164, essv6914777, essv6725943, essv6670560, essv6865168, essv6808140, essv6675954, essv6676178, essv6786038, essv6833461, essv6683678, essv6822116, essv6910968, essv6956395, essv6963102, essv6903410, essv6730544, essv6770443
SamplesSSM100, SSM083, SSM027, SSM075, SSM064, SSM079, SSM065, SSM087, SSM013, SSM073, SSM023, SSM084, SSM047, SSM069, SSM029, SSM026, SSM089, SSM032, SSM031, SSM086, SSM068, SSM081, SSM082, SSM020, SSM007, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM098, SSM012
Known GenesRWDD4
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)esv2728874
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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