A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12560537



Internal ID2562353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136248390..136249640hg38UCSC Ensembl
Innerchr6:136248435..136249596hg38UCSC Ensembl
Outerchr6:136248346..136249685hg38UCSC Ensembl
chr6:136569528..136570778hg19UCSC Ensembl
Innerchr6:136569573..136570734hg19UCSC Ensembl
Outerchr6:136569484..136570823hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610912
Supporting Variants
SamplesNA20340
Known GenesMTFR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12560537
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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