A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10349392



Internal ID5233279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240393903..240394872hg38UCSC Ensembl
Innerchr1:240393920..240394855hg38UCSC Ensembl
Outerchr1:240393886..240394889hg38UCSC Ensembl
chr1:240557203..240558172hg19UCSC Ensembl
Innerchr1:240557220..240558155hg19UCSC Ensembl
Outerchr1:240557186..240558189hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38970
hg19970
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589309
Supporting Variants
SamplesNA18627
Known GenesFMN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10349392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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