A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6771167



Internal ID9830846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141731700..141731893hg38UCSC Ensembl
Outerchr7:141431500..141431693hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735248
Supporting Variants
SamplesSSM065
Known GenesWEE2-AS1
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)essv6771167
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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