A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737789



Internal ID9972128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141487383..141488370hg38UCSC Ensembl
Outerchr8:142497483..142498470hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919591, essv6841917, essv6876257, essv6727803, essv6970167, essv6771527, essv6870339, essv6752161, essv6861722, essv6894168, essv6958282, essv6801532, essv6948508, essv6791270, essv6939768, essv6723953, essv6775211
SamplesSSM024, SSM045, SSM046, SSM065, SSM009, SSM088, SSM057, SSM028, SSM092, SSM084, SSM090, SSM026, SSM017, SSM066, SSM022, SSM070, SSM098
Known GenesMROH5
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)esv2737789
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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