A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12130243



Internal ID5475741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170702838..170704378hg38UCSC Ensembl
Innerchr5:170702888..170704328hg38UCSC Ensembl
Outerchr5:170702621..170704595hg38UCSC Ensembl
chr5:170129842..170131382hg19UCSC Ensembl
Innerchr5:170129892..170131332hg19UCSC Ensembl
Outerchr5:170129625..170131599hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381541
hg191541
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607568
Supporting Variants
SamplesNA18975
Known GenesKCNIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12130243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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