A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10076575



Internal ID78391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112663496..112664800hg38UCSC Ensembl
Innerchr1:112663646..112664650hg38UCSC Ensembl
Outerchr1:112663346..112664950hg38UCSC Ensembl
chr1:113206118..113207422hg19UCSC Ensembl
Innerchr1:113206268..113207272hg19UCSC Ensembl
Outerchr1:113205968..113207572hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587216
Supporting Variants
SamplesHG02604
Known GenesCAPZA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10076575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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