A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10360164



Internal ID5666272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245009741..245014557hg38UCSC Ensembl
Innerchr1:245009760..245014538hg38UCSC Ensembl
Outerchr1:245009722..245014576hg38UCSC Ensembl
chr1:245173043..245177859hg19UCSC Ensembl
Innerchr1:245173062..245177840hg19UCSC Ensembl
Outerchr1:245173024..245177878hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384817
hg194817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589424
Supporting Variants
SamplesNA19075
Known GenesEFCAB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10360164
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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