A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10200260



Internal ID714784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180303164..180304695hg38UCSC Ensembl
Innerchr1:180303213..180304646hg38UCSC Ensembl
Outerchr1:180303115..180304744hg38UCSC Ensembl
chr1:180272299..180273830hg19UCSC Ensembl
Innerchr1:180272348..180273781hg19UCSC Ensembl
Outerchr1:180272250..180273879hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381532
hg191532
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588066
Supporting Variants
SamplesHG00335
Known GenesACBD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10200260
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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