A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611769



Internal ID6998673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:273805..295057hg38UCSC Ensembl
Innerchr7:273814..295049hg38UCSC Ensembl
Outerchr7:273797..295066hg38UCSC Ensembl
chr7:313771..335023hg19UCSC Ensembl
Innerchr7:313780..335015hg19UCSC Ensembl
Outerchr7:313763..335032hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3821253
hg1921253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1242e214
Supporting Variantsessv12657195, essv12657196
SamplesNA18543, NA18549
Known GenesLOC100288524
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611769
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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