A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587768



Internal ID6975191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163423568..163424498hg38UCSC Ensembl
Innerchr1:163423570..163424497hg38UCSC Ensembl
Outerchr1:163423567..163424500hg38UCSC Ensembl
chr1:163393358..163394288hg19UCSC Ensembl
Innerchr1:163393360..163394287hg19UCSC Ensembl
Outerchr1:163393357..163394290hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10174621, essv10174622, essv10174620
SamplesHG02688, HG02786, HG03861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587768
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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