A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4313496



Internal ID11249348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69916118..69916118hg38UCSC Ensembl
chr1:70381801..70381801hg19UCSC Ensembl
chr1:70154389..70154389hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1094257
Supporting Variants
SamplesHuRef
Known GenesLRRC7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4313496
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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