A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855770



Internal ID9906990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140470376..140470498hg38UCSC Ensembl
Outerchr7:140170176..140170298hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735242
Supporting Variants
SamplesSSM087
Known GenesMKRN1
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)essv6855770
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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