A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10200508



Internal ID202324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180780629..180786278hg38UCSC Ensembl
Innerchr1:180780629..180786278hg38UCSC Ensembl
Outerchr1:180780300..180786660hg38UCSC Ensembl
chr1:180749765..180755414hg19UCSC Ensembl
Innerchr1:180749765..180755414hg19UCSC Ensembl
Outerchr1:180749436..180755796hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588073
Supporting Variants
SamplesHG00551
Known GenesXPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10200508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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