A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8936629



Internal ID14422858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104412124..104412168hg38UCSC Ensembl
Innerchr7:104412129..104412161hg38UCSC Ensembl
Outerchr7:104412087..104412205hg38UCSC Ensembl
chr7:104052572..104052616hg19UCSC Ensembl
Innerchr7:104052577..104052609hg19UCSC Ensembl
Outerchr7:104052535..104052653hg19UCSC Ensembl
chr7:103839808..103839852hg18UCSC Ensembl
Innerchr7:103839845..103839813hg18UCSC Ensembl
Outerchr7:103839771..103839889hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360317
Supporting Variants
SamplesNA18909
Known GenesLHFPL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8936629
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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