A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819273



Internal ID1122248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66558935..66568647hg38UCSC Ensembl
Innerchr7:66558937..66568645hg38UCSC Ensembl
Outerchr7:66558933..66568649hg38UCSC Ensembl
chr7:66023922..66033634hg19UCSC Ensembl
Innerchr7:66023924..66033632hg19UCSC Ensembl
Outerchr7:66023920..66033636hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg389713
hg199713
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613513
Supporting Variants
SamplesHG00759
Known GenesLOC493754
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819273
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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