A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733864



Internal ID10317500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2859299..2859578hg38UCSC Ensembl
Outerchr7:2898933..2899212hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919065, essv6837637, essv6926988, essv6975147, essv6849415, essv6671412, essv6797320, essv6899841, essv6680581, essv6881565, essv6957359, essv6754700, essv6952113, essv6963028, essv6901708
SamplesSSM100, SSM083, SSM009, SSM002, SSM058, SSM029, SSM026, SSM017, SSM019, SSM094, SSM031, SSM086, SSM033, SSM025, SSM004
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)esv2733864
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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