A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12980146



Internal ID6665689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137843781..137846177hg38UCSC Ensembl
Innerchr7:137843822..137846136hg38UCSC Ensembl
Outerchr7:137843740..137846218hg38UCSC Ensembl
chr7:137528527..137530923hg19UCSC Ensembl
Innerchr7:137528568..137530882hg19UCSC Ensembl
Outerchr7:137528486..137530964hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382397
hg192397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615179
Supporting Variants
SamplesNA20808
Known GenesDGKI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12980146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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