A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594612



Internal ID6634888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230794241..230797540hg38UCSC Ensembl
Innerchr2:230794241..230797540hg38UCSC Ensembl
Outerchr2:230794023..230797736hg38UCSC Ensembl
chr2:231658956..231662255hg19UCSC Ensembl
Innerchr2:231658956..231662255hg19UCSC Ensembl
Outerchr2:231658738..231662451hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875227, essv10875226
SamplesHG00131, HG00139
Known GenesCAB39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594612
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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