A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734197



Internal ID10317833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:30569564..30570688hg38UCSC Ensembl
Outerchr7:30609180..30610304hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849472, essv6943698, essv6782452, essv6975208, essv6705240, essv6671461
SamplesSSM023, SSM029, SSM031, SSM086, SSM068, SSM040
Known GenesLOC401320
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)esv2734197
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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