A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728790



Internal ID9963105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177593064..177593420hg38UCSC Ensembl
Outerchr4:178514218..178514574hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968963, essv6676171, essv6914771, essv6844633, essv6942942, essv6833453, essv6814005, essv6754231, essv6817750, essv6719059, essv6878340, essv6700656, essv6794311, essv6974109, essv6670540, essv6840892, essv6711511, essv6690113, essv6829841, essv6781856, essv6852387, essv6822109, essv6963087, essv6704685, essv6886716, essv6883939, essv6777815, essv6811023, essv6907125, essv6956379
SamplesSSM036, SSM071, SSM027, SSM011, SSM079, SSM039, SSM093, SSM042, SSM023, SSM058, SSM028, SSM084, SSM029, SSM096, SSM026, SSM032, SSM031, SSM067, SSM044, SSM014, SSM085, SSM068, SSM081, SSM040, SSM082, SSM078, SSM016, SSM077, SSM076, SSM095
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)esv2728790
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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