A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589424



Internal ID6976752
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360164, essv10360163
SamplesNA19075, NA12776
Known GenesEFCAB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589424
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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