A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10319443



Internal ID960900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231844737..231846086hg38UCSC Ensembl
Innerchr1:231844737..231846086hg38UCSC Ensembl
Outerchr1:231844408..231846368hg38UCSC Ensembl
chr1:231980483..231981832hg19UCSC Ensembl
Innerchr1:231980483..231981832hg19UCSC Ensembl
Outerchr1:231980154..231982114hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589119
Supporting Variants
SamplesHG00592
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10319443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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