A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585397



Internal ID6625716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19393540..19405459hg38UCSC Ensembl
Innerchr1:19393540..19405459hg38UCSC Ensembl
Outerchr1:19393040..19405959hg38UCSC Ensembl
chr1:19720034..19731953hg19UCSC Ensembl
Innerchr1:19720034..19731953hg19UCSC Ensembl
Outerchr1:19719534..19732453hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811920
hg1911920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9879215, essv9879214
SamplesHG00182, NA20276
Known GenesCAPZB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585397
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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