A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735141



Internal ID9969471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128603210..128603818hg38UCSC Ensembl
Outerchr7:128243264..128243872hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763842, essv6782546, essv6907943, essv6698137, essv6915360, essv6964286, essv6911665, essv6897013, essv6690781, essv6975407, essv6743402, essv6904037, essv6952263, essv6930819, essv6671652, essv6927120, essv6822768, essv6919211, essv6705350, essv6957594, essv6923403, essv6701464, essv6939376, essv6855749, essv6712169, essv6715849, essv6845230, essv6778551, essv6814638, essv6841569, essv6771150, essv6795021
SamplesSSM036, SSM008, SSM071, SSM027, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM042, SSM084, SSM018, SSM029, SSM026, SSM017, SSM019, SSM031, SSM067, SSM014, SSM085, SSM068, SSM040, SSM020, SSM015, SSM016, SSM053, SSM077, SSM022, SSM025, SSM099, SSM043
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)esv2735141
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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