A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9890082



Internal ID6515375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23780400..23781950hg38UCSC Ensembl
Innerchr1:23780450..23781900hg38UCSC Ensembl
Outerchr1:23780348..23782002hg38UCSC Ensembl
chr1:24106890..24108440hg19UCSC Ensembl
Innerchr1:24106940..24108390hg19UCSC Ensembl
Outerchr1:24106838..24108492hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381551
hg191551
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585492
Supporting Variants
SamplesNA19466
Known GenesPITHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9890082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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