A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615505



Internal ID6655704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152414362..152419187hg38UCSC Ensembl
Innerchr7:152414403..152419147hg38UCSC Ensembl
Outerchr7:152414322..152419228hg38UCSC Ensembl
chr7:152111447..152116272hg19UCSC Ensembl
Innerchr7:152111488..152116232hg19UCSC Ensembl
Outerchr7:152111407..152116313hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384826
hg194826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13013869, essv13013871, essv13013867, essv13013870, essv13013865, essv13013866, essv13013868, essv13013872, essv13013864
SamplesHG03785, HG03861, HG03886, HG03863, NA19917, HG03864, NA20847, HG03757, HG03740
Known GenesKMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615505
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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