A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12947974



Internal ID5226252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121419148..121444591hg38UCSC Ensembl
Innerchr7:121419150..121444590hg38UCSC Ensembl
Outerchr7:121419147..121444593hg38UCSC Ensembl
chr7:121059202..121084645hg19UCSC Ensembl
Innerchr7:121059204..121084644hg19UCSC Ensembl
Outerchr7:121059201..121084647hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3825444
hg1925444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614820
Supporting Variants
SamplesNA18624
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12947974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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