A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597244



Internal ID4202814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100331133..100336917hg38UCSC Ensembl
Innerchr2:100331140..100336911hg38UCSC Ensembl
Outerchr2:100331127..100336924hg38UCSC Ensembl
chr2:100947595..100953379hg19UCSC Ensembl
Innerchr2:100947602..100953373hg19UCSC Ensembl
Outerchr2:100947589..100953386hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385785
hg195785
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591753
Supporting Variants
SamplesHG03786
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597244
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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