A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10183172



Internal ID1951688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168577117..168578878hg38UCSC Ensembl
Innerchr1:168577117..168578878hg38UCSC Ensembl
Outerchr1:168576949..168579075hg38UCSC Ensembl
chr1:168546355..168548116hg19UCSC Ensembl
Innerchr1:168546355..168548116hg19UCSC Ensembl
Outerchr1:168546187..168548313hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587866
Supporting Variants
SamplesHG01809
Known GenesXCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10183172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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