A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12949088



Internal ID2950904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123545800..123551524hg38UCSC Ensembl
Innerchr7:123545806..123551518hg38UCSC Ensembl
Outerchr7:123545794..123551530hg38UCSC Ensembl
chr7:123185854..123191578hg19UCSC Ensembl
Innerchr7:123185860..123191572hg19UCSC Ensembl
Outerchr7:123185848..123191584hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg385725
hg195725
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614856
Supporting Variants
SamplesHG02239
Known GenesNDUFA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12949088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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