A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9915311



Internal ID6540604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39110284..39112127hg38UCSC Ensembl
Innerchr1:39110315..39112097hg38UCSC Ensembl
Outerchr1:39110254..39112158hg38UCSC Ensembl
chr1:39575956..39577799hg19UCSC Ensembl
Innerchr1:39575987..39577769hg19UCSC Ensembl
Outerchr1:39575926..39577830hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381844
hg191844
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585784
Supporting Variants
SamplesHG02283
Known GenesMACF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9915311
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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