A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929166



Internal ID4192222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51136614..51146884hg38UCSC Ensembl
Innerchr1:51137114..51146384hg38UCSC Ensembl
Outerchr1:51135614..51147884hg38UCSC Ensembl
chr1:51602286..51612556hg19UCSC Ensembl
Innerchr1:51602786..51612056hg19UCSC Ensembl
Outerchr1:51601286..51613556hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3810271
hg1910271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586028
Supporting Variants
SamplesHG03781
Known GenesC1orf185
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929166
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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