A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819733



Internal ID3988914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66954217..66964288hg38UCSC Ensembl
Innerchr7:66954367..66964138hg38UCSC Ensembl
Outerchr7:66954067..66964438hg38UCSC Ensembl
chr7:66419204..66429275hg19UCSC Ensembl
Innerchr7:66419354..66429125hg19UCSC Ensembl
Outerchr7:66419054..66429425hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3810072
hg1910072
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613531
Supporting Variants
SamplesHG03643
Known GenesTMEM248
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819733
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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