A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12912202



Internal ID1585878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103086004..103099700hg38UCSC Ensembl
Innerchr7:103086504..103099200hg38UCSC Ensembl
Outerchr7:103085004..103100700hg38UCSC Ensembl
chr7:102726451..102740147hg19UCSC Ensembl
Innerchr7:102726951..102739647hg19UCSC Ensembl
Outerchr7:102725451..102741147hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3813697
hg1913697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614368
Supporting Variants
SamplesHG01465
Known GenesARMC10, NAPEPLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12912202
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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