A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735682



Internal ID10319318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157437648..157438342hg38UCSC Ensembl
Outerchr7:157230342..157231036hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771222, essv6737283, essv6764509, essv6671746, essv6923477, essv6932262, essv6975534, essv6798988, essv6727546, essv6749046, essv6708791, essv6698190, essv6861381, essv6754881, essv6948245, essv6849788, essv6837830, essv6746236, essv6969834, essv6911734, essv6855842, essv6751914, essv6740346, essv6731842, essv6943912, essv6690845, essv6957703, essv6939449, essv6715935, essv6919308, essv6870117, essv6927193
SamplesSSM036, SSM008, SSM083, SSM024, SSM046, SSM065, SSM087, SSM038, SSM009, SSM050, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM090, SSM018, SSM029, SSM026, SSM017, SSM019, SSM003, SSM031, SSM086, SSM007, SSM015, SSM022, SSM055, SSM043, SSM052, SSM056
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)esv2735682
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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