A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734454



Internal ID9968781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56149867..56152562hg38UCSC Ensembl
Outerchr7:56217560..56220255hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg382696
hg192696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765178, essv6667703, essv6687462, essv6737163, essv6734536, essv6907831, essv6881614, essv6754752, essv6748938, essv6763098, essv6887204, essv6857087, essv6865889
SamplesSSM008, SSM011, SSM050, SSM058, SSM096, SSM089, SSM035, SSM094, SSM014, SSM049, SSM056, SSM030, SSM063
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)esv2734454
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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