A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12912203



Internal ID2914019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103099307..103105188hg38UCSC Ensembl
Innerchr7:103099363..103105132hg38UCSC Ensembl
Outerchr7:103099251..103105244hg38UCSC Ensembl
chr7:102739754..102745635hg19UCSC Ensembl
Innerchr7:102739810..102745579hg19UCSC Ensembl
Outerchr7:102739698..102745691hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385882
hg195882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614369
Supporting Variants
SamplesHG01883
Known GenesARMC10, NAPEPLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12912203
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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