A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734742



Internal ID9969072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:81728992..81729284hg38UCSC Ensembl
Outerchr7:81358308..81358600hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1101e201
Supporting Variantsessv6890461, essv6861240, essv6857721, essv6948119, essv6834068, essv6865952, essv6957524, essv6907888, essv6855682, essv6671591, essv6899939, essv6727427, essv6826713, essv6814606, essv6687506, essv6676875, essv6881650, essv6818580, essv6975325, essv6964221
SamplesSSM100, SSM027, SSM024, SSM046, SSM011, SSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM082, SSM078, SSM080, SSM077
Known GenesHGF
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)esv2734742
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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