A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728567



Internal ID10312203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155498277..155498515hg38UCSC Ensembl
Outerchr4:156419429..156419667hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6886699, essv6833431, essv6697652, essv6951506, essv6922697, essv6670485, essv6956334, essv6757127, essv6805126, essv6858709, essv6742821, essv6693770, essv6926040, essv6875402, essv6715126, essv6704660, essv6730505, essv6884753, essv6848511, essv6930056, essv6700619, essv6690086, essv6774272, essv6701277, essv6968939, essv6711485, essv6926476, essv6739625
SamplesSSM059, SSM036, SSM038, SSM039, SSM074, SSM042, SSM002, SSM028, SSM092, SSM047, SSM018, SSM096, SSM026, SSM019, SSM031, SSM001, SSM086, SSM066, SSM006, SSM040, SSM082, SSM020, SSM053, SSM037, SSM025, SSM043, 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)esv2728567
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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